H00854 | |
H number | H00854 |
Name | Wolfram syndrome; DIDMOAD syndrome |
Description | Wolfram syndrome (WFS) is a rare hereditary neurodegenerative disorder also known as DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). Two different categories of WFS (WFS1 and 2) are recognized, each with its own subset of variable symptoms, and resulting from mutations in the WFS1 and CISD2 genes, respectively. The WFS1 encodes an endoplasmic reticulum membrane-embedded protein. ERIS, the protein that CISD2 encodes, also localizes to the endoplasmic reticulum. |
Category | Endocrine and metabolic disease |
Network | - |
Gene | (WFS1) WFS1 [HSA:7466] [KO:K14020] (WFS2) CISD2 [HSA:493856] [KO:K23882] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5A61.5 ICD-10: E13.8 MeSH: D014929 OMIM: 222300 604928 |
Reference | PMID:15070927 AUTHORS Medlej R, Wasson J, Baz P, Azar S, Salti I, Loiselet J, Permutt A, Halaby G TITLE Diabetes mellitus and optic atrophy: a study of Wolfram syndrome in the Lebanese population. JOURNAL J Clin Endocrinol Metab 89:1656-61 (2004) DOI:10.1210/jc.2002-030015 PMID:20649540 AUTHORS Chen YF, Wu CY, Kirby R, Kao CH, Tsai TF TITLE A role for the CISD2 gene in lifespan control and human disease. JOURNAL Ann N Y Acad Sci 1201:58-64 (2010) DOI:10.1111/j.1749-6632.2010.05619.x PMID:20738327 AUTHORS Rigoli L, Lombardo F, Di Bella C TITLE Wolfram syndrome and WFS1 gene. JOURNAL Clin Genet 79:103-17 (2011) DOI:10.1111/j.1399-0004.2010.01522.x |